Incidental Mutation 'IGL01869:Efhd2'
ID |
178654 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efhd2
|
Ensembl Gene |
ENSMUSG00000040659 |
Gene Name |
EF hand domain containing 2 |
Synonyms |
D4Wsu27e, 2600015J22Rik, swiprosin 1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
IGL01869
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141585453-141602231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141601913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 89
(F89S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036854]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036854
AA Change: F89S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044502 Gene: ENSMUSG00000040659 AA Change: F89S
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
EFh
|
96 |
124 |
1.44e-2 |
SMART |
EFh
|
132 |
160 |
2.71e0 |
SMART |
coiled coil region
|
199 |
237 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190911
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced germinal center responses and humoral type 2 immunity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700026F02Rik |
A |
G |
8: 71,495,689 (GRCm39) |
|
noncoding transcript |
Het |
Adam29 |
T |
C |
8: 56,324,732 (GRCm39) |
H574R |
probably damaging |
Het |
Arap1 |
C |
A |
7: 101,049,490 (GRCm39) |
T984K |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,521,837 (GRCm39) |
S396T |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,700,770 (GRCm39) |
K2587E |
unknown |
Het |
Cyp3a44 |
A |
G |
5: 145,727,496 (GRCm39) |
S278P |
probably damaging |
Het |
Daw1 |
T |
G |
1: 83,159,965 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,943,502 (GRCm39) |
K3200R |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,856,642 (GRCm39) |
|
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,979 (GRCm39) |
D68G |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,517,954 (GRCm39) |
C134S |
probably damaging |
Het |
Gpaa1 |
A |
G |
15: 76,217,198 (GRCm39) |
T178A |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,657,820 (GRCm39) |
N312S |
possibly damaging |
Het |
Npepps |
T |
C |
11: 97,126,948 (GRCm39) |
I437M |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,746,534 (GRCm39) |
D276G |
probably benign |
Het |
Or11i1 |
C |
T |
3: 106,729,342 (GRCm39) |
D178N |
probably benign |
Het |
Rcor1 |
C |
A |
12: 111,070,193 (GRCm39) |
T330K |
possibly damaging |
Het |
Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
Sema3g |
A |
G |
14: 30,945,624 (GRCm39) |
E478G |
probably damaging |
Het |
Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,641,741 (GRCm39) |
*460R |
probably null |
Het |
Syde1 |
A |
G |
10: 78,424,753 (GRCm39) |
C360R |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,256,268 (GRCm39) |
V197A |
possibly damaging |
Het |
Tnrc6c |
T |
C |
11: 117,646,274 (GRCm39) |
V1405A |
possibly damaging |
Het |
Ttbk1 |
A |
G |
17: 46,757,989 (GRCm39) |
S882P |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,006,269 (GRCm39) |
H116Q |
possibly damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,750 (GRCm39) |
N157Y |
probably damaging |
Het |
Vmn1r60 |
C |
T |
7: 5,547,228 (GRCm39) |
V291M |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo5 |
C |
T |
17: 46,553,133 (GRCm39) |
P1184L |
possibly damaging |
Het |
Zfp946 |
T |
G |
17: 22,673,684 (GRCm39) |
I146S |
probably benign |
Het |
|
Other mutations in Efhd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01318:Efhd2
|
APN |
4 |
141,587,176 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01710:Efhd2
|
APN |
4 |
141,587,872 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:Efhd2
|
UTSW |
4 |
141,602,075 (GRCm39) |
small insertion |
probably benign |
|
R0109:Efhd2
|
UTSW |
4 |
141,601,878 (GRCm39) |
missense |
probably benign |
0.00 |
R0711:Efhd2
|
UTSW |
4 |
141,587,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R6861:Efhd2
|
UTSW |
4 |
141,587,192 (GRCm39) |
splice site |
probably null |
|
R7765:Efhd2
|
UTSW |
4 |
141,601,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R8275:Efhd2
|
UTSW |
4 |
141,602,073 (GRCm39) |
missense |
probably benign |
0.31 |
R8504:Efhd2
|
UTSW |
4 |
141,587,186 (GRCm39) |
nonsense |
probably null |
|
RF008:Efhd2
|
UTSW |
4 |
141,602,069 (GRCm39) |
small insertion |
probably benign |
|
RF010:Efhd2
|
UTSW |
4 |
141,602,075 (GRCm39) |
small insertion |
probably benign |
|
RF012:Efhd2
|
UTSW |
4 |
141,602,079 (GRCm39) |
small insertion |
probably benign |
|
RF015:Efhd2
|
UTSW |
4 |
141,602,067 (GRCm39) |
small insertion |
probably benign |
|
RF016:Efhd2
|
UTSW |
4 |
141,602,067 (GRCm39) |
small insertion |
probably benign |
|
RF021:Efhd2
|
UTSW |
4 |
141,602,084 (GRCm39) |
small insertion |
probably benign |
|
RF023:Efhd2
|
UTSW |
4 |
141,602,073 (GRCm39) |
small insertion |
probably benign |
|
RF024:Efhd2
|
UTSW |
4 |
141,602,073 (GRCm39) |
small insertion |
probably benign |
|
RF025:Efhd2
|
UTSW |
4 |
141,602,082 (GRCm39) |
small insertion |
probably benign |
|
RF032:Efhd2
|
UTSW |
4 |
141,602,083 (GRCm39) |
small insertion |
probably benign |
|
RF044:Efhd2
|
UTSW |
4 |
141,602,079 (GRCm39) |
small insertion |
probably benign |
|
RF056:Efhd2
|
UTSW |
4 |
141,602,078 (GRCm39) |
small insertion |
probably benign |
|
RF057:Efhd2
|
UTSW |
4 |
141,602,080 (GRCm39) |
small insertion |
probably benign |
|
RF062:Efhd2
|
UTSW |
4 |
141,602,085 (GRCm39) |
small insertion |
probably benign |
|
RF062:Efhd2
|
UTSW |
4 |
141,602,066 (GRCm39) |
small insertion |
probably benign |
|
RF064:Efhd2
|
UTSW |
4 |
141,602,066 (GRCm39) |
small insertion |
probably benign |
|
Z1177:Efhd2
|
UTSW |
4 |
141,601,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |